Malignant Hyperthermia Susceptibility: Utilization of Genetic Results in an Electronic Medical Record to Increase Safety

Abstract

Aim: This manuscript describes implementation of clinical decision support for providers concerned with perioperative complications of malignant hyperthermia susceptibility. Materials & methods: Clinical decision support for malignant hyperthermia susceptibility was implemented in 2018 based around our pre-emptive genotyping platform. We completed a brief descriptive review of patients who underwent pre-emptive testing, focused particularly on RYR1 and CACNA1S genes. Results: To date, we have completed pre-emptive genetic testing on more than 10,000 patients; 13 patients having been identified as a carrier of a pathogenic or likely pathogenic variant of RYR1 or CACNA1S. Conclusion: An alert system for malignant hyperthermia susceptibility – as an extension of our pre-emptive genomics platform – was implemented successfully. Implementation strategies and lessons learned are discussed herein.

Tweetable abstract

RYR1 and CACNA1S have pathogenic variants known to cause malignant hyperthermia susceptibility (MHS) in patients receiving inhaled volatile anesthetics and succinylcholine. While there are guidelines and recommendations for genetic screening of MHS, the ability to translate genetic information into practice has functional limitations, especially for clinicians who may rely on patient report or information buried in a medical record. In this report, we describe a novel infrastructure and methodology that alerts anesthesiologists to the presence of MHS before and during surgery. This platform provides clinical decision support in the form of passive and interruptive alerts in real time. In more than 10,000 patients screened for MHS, 0.122% had a pathogenic or likely pathogenic variant of RYR1 or CACNA1S, which predispose MHS.

Keywords::

• clinical decision support
• inhalation anesthetics
• malignant hyperthermia
• malignant hyperthermia susceptibility
• personalized medicine
• pharmacogenomics

Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at: www.tandfonline.com/doi/suppl/10.2217/pgs-2020-0088

Author contributions

All authors have made substantial contributions to the design or interpretation of this study and drafting or revision of the manuscript. All authors have provided final approval of the manuscript and agree to be accountable for the accuracy and integrity of the work.

Acknowledgments

The authors would like to thank R Wilke and M Johnson for providing guidance and support with this project.

Financial & competing interests disclosure

This work was supported by a generous gift from T Denny Sanford, establishing Sanford Imagenetics. Disclose any financial interests. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the preparation of this manuscript.

Ethical conduct of research

The authors have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. This work has been approved by the Sanford Health IRB – study no. STUDY00002071.

Additional information

Funding

This work was supported by a generous gift from T Denny Sanford, establishing Sanford Imagenetics. Disclose any financial interests. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the preparation of this manuscript.